A probabilistic disease-gene finder for personal g... [Genome Res. 2011] - PubMed result

A probabilistic disease-gene finder for personal g... [Genome Res. 2011] - PubMed result: "Genome Res. 2011 Jun 23. [Epub ahead of print]
A probabilistic disease-gene finder for personal genomes.
Yandell M, Huff CD, Hu H, Singleton M, Moore B, Xing J, Jorde LB, Reese MG.
Source

University of Utah;


Abstract

VAAST (the Variant Annotation, Analysis & Search Tool) is a probabilistic search tool for identifying damaged genes and their disease-causing variants in personal genome sequences. VAAST builds upon existing amino acid substitution (AAS) and aggregative approaches to variant prioritization, combining elements of both into a single unified likelihood-framework that allows users to identify damaged genes and deleterious variants with greater accuracy, and in an easy-to-use fashion. VAAST can score both coding and non-coding variants, evaluating the cumulative impact of both types of variants simultaneously. VAAST can identify rare variants causing rare genetic diseases, and it can also use both rare and common variants to identify genes responsible for common diseases. VAAST thus has a much greater scope of use than any existing methodology. Here we demonstrate its ability to identify damaged genes using small cohorts (n=3) of unrelated individuals, wherein no two share the same deleterious variants, and for common, multigenic diseases using as few as 150 cases.

PMID: 21700766
[PubMed - as supplied by publisher]

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